Unexpected life-threatening complications in Kabuki syndrome

M M van Haelst; A S Brooks; J Hoogeboom; M W Wessels; D Tibboel; J C de Jongste; J C den Hollander; J J Bongers-Schokking; M F Niermeijer; P J Willems

doi:https://doi.org/10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2

Unexpected life-threatening complications in Kabuki syndrome

M M van Haelst, A S Brooks, J Hoogeboom, M W Wessels, D Tibboel, J C de Jongste, J C den Hollander, J J Bongers-Schokking, M F Niermeijer, P J Willems

Research output: Contribution to journal › Article › Academic › peer-review

6 Citations (Scopus)

Abstract

Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia.

Original language	English
Pages (from-to)	170-3
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	94
Issue number	2
DOIs	https://doi.org/10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2
Publication status	Published - 11 Sept 2000

Keywords

Abnormalities, Multiple/diagnostic imaging
Biliary Atresia
Bronchi/abnormalities
Child
Child, Preschool
Hernia, Diaphragmatic
Humans
Intellectual Disability
Male
Radiography
Syndrome

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https://doi.org/10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2

Cite this

van Haelst, M. M., Brooks, A. S., Hoogeboom, J., Wessels, M. W., Tibboel, D., de Jongste, J. C., den Hollander, J. C., Bongers-Schokking, J. J., Niermeijer, M. F., & Willems, P. J. (2000). Unexpected life-threatening complications in Kabuki syndrome. American Journal of Medical Genetics, 94(2), 170-3. https://doi.org/10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2

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AU - van Haelst, M M

AU - Brooks, A S

AU - Hoogeboom, J

AU - Wessels, M W

AU - Tibboel, D

AU - de Jongste, J C

AU - den Hollander, J C

AU - Bongers-Schokking, J J

AU - Niermeijer, M F

AU - Willems, P J

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KW - Biliary Atresia

KW - Bronchi/abnormalities

KW - Child

KW - Child, Preschool

KW - Hernia, Diaphragmatic

KW - Humans

KW - Intellectual Disability

KW - Male

KW - Radiography

KW - Syndrome

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